Results 211 to 220 of about 197,731 (317)

Bronchoscopy Robot with Enhanced Flexibility and Stability via Multi‐Segment Variable Stiffness Catheter

open access: yesAdvanced Intelligent Systems, EarlyView.
This work presents a magnetic bronchoscopy robot with a novel multi‐segment variable stiffness catheter. This catheter can not only move flexibly in the narrow bronchi but also harden according to the need to provide support. Combined with remote wireless magnetic field drive, it provides a more precise and effective solution for biopsy of deep lung ...
Shucong Yin   +10 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun   +7 more
wiley   +1 more source

Surfers' Nodules

open access: yesInternational Journal of Clinical Practice, 1973
openaire   +2 more sources

Correlation Between Thyroid Nodule Size and Risk of Thyroid Cancer: A Retrospective Cohort Study at a Tertiary Care Center. [PDF]

open access: yesDiagnostics (Basel)
Zeidan O   +7 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

Glomus tumor of the lower extremity. [PDF]

open access: yesJ Vasc Surg Cases Innov Tech
Vemulapalli A, Presny B, Sen I.
europepmc   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir   +6 more
wiley   +1 more source

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